NM_003482.3:c.10658G>T

HGVS Expressions

  • NG_027827.1:g.26176G>T
  • NM_003482.3:c.10658G>T
  • NP_003473.3:p.Gly3553Val
  • NC_000012.12:g.49034149C>A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

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